ClinVar Miner

Variants from Victorian Clinical Genetics Services,Murdoch Childrens Research Institute

Location: Australia — Primary collection method: clinical testing
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:

If a variant has more than one submission, it may be counted in more than one significance column. If this is the case, the total number of variants will be less than the sum of the other cells.

pathogenic likely pathogenic uncertain significance likely benign benign total
32 31 1 0 0 64

Gene and significance breakdown #

Total genes and gene combinations: 51
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Gene or gene combination pathogenic likely pathogenic uncertain significance total
ECHS1 0 3 0 3
TTC7A 3 0 0 3
ATRIP, ATRIP-TREX1, TREX1 2 0 0 2
COL7A1 1 1 0 2
DARS1 0 1 1 2
DDC 0 2 0 2
DYNC2H1 0 2 0 2
MYO5B, SNHG22 0 2 0 2
NSD1 1 1 0 2
PMM2 2 0 0 2
SLC19A3 1 1 0 2
ABCA12, SNHG31 0 1 0 1
ABCC9 0 1 0 1
ABCD1 1 0 0 1
ACTG2 1 0 0 1
ATP1A3 1 0 0 1
BBS10 0 1 0 1
CHD7 0 1 0 1
CHRDL1 1 0 0 1
CLCN7 0 1 0 1
COL1A2 0 1 0 1
DNAH5 0 1 0 1
EFTUD2 0 1 0 1
FOXG1 0 1 0 1
HDAC8 0 1 0 1
HLCS 0 1 0 1
HRAS, LRRC56 1 0 0 1
KAT6A 1 0 0 1
KAT6B 1 0 0 1
KIAA0586 1 0 0 1
KMT2A 1 0 0 1
KMT2D 1 0 0 1
LBR 0 1 0 1
LOC102724058, SCN1A 0 1 0 1
LOC105371049, PKD1 1 0 0 1
MECP2 1 0 0 1
MT-ATP6, MT-ATP8, MT-CO3, MT-ND3, MT-ND4, MT-ND4L, MT-ND5, MT-TG, MT-TH, MT-TK, MT-TL2, MT-TR, MT-TS2 1 0 0 1
MT-ATP6, MT-ATP8, MT-CO3, MT-ND3, MT-ND4, MT-ND4L, MT-ND5, MT-TG, MT-TH, MT-TL2, MT-TR, MT-TS2 1 0 0 1
MTM1 1 0 0 1
NALCN 0 1 0 1
NIPBL 1 0 0 1
POMGNT1, TSPAN1 1 0 0 1
RIT1 1 0 0 1
SCN2A 0 1 0 1
SLC52A3 0 1 0 1
STAT1 1 0 0 1
STXBP1 1 0 0 1
TBX5 1 0 0 1
TTN 0 1 0 1
USP9X 0 1 0 1
VPS13B 1 0 0 1

Condition and significance breakdown #

Total conditions: 50
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Condition pathogenic likely pathogenic uncertain significance total
Mitochondrial short-chain enoyl-coa hydratase 1 deficiency 0 3 0 3
Multiple gastrointestinal atresias 3 0 0 3
Aicardi Goutieres syndrome 1 2 0 0 2
Biotin-thiamine-responsive basal ganglia disease 1 1 0 2
Carbohydrate-deficient glycoprotein syndrome type I 2 0 0 2
Congenital microvillous atrophy 0 2 0 2
Deficiency of aromatic-L-amino-acid decarboxylase 0 2 0 2
Hypomyelination with brainstem and spinal cord involvement and leg spasticity 0 1 1 2
Pearson marrow-pancreas syndrome 2 0 0 2
Recessive dystrophic epidermolysis bullosa 1 1 0 2
Short-rib thoracic dysplasia 3 with or without polydactyly 0 2 0 2
Sotos syndrome 1 1 1 0 2
Adrenoleukodystrophy 1 0 0 1
Alternating hemiplegia of childhood 2 1 0 0 1
Autosomal recessive congenital ichthyosis 4B 0 1 0 1
Bardet-Biedl syndrome 10 0 1 0 1
Brown-Vialetto-Van Laere syndrome 1 0 1 0 1
CHARGE association 0 1 0 1
Ciliary dyskinesia, primary, 3 0 1 0 1
Cohen syndrome 1 0 0 1
Congenital contractures of the limbs and face, hypotonia, and developmental delay 0 1 0 1
Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B3 1 0 0 1
Cornelia de Lange syndrome 1 1 0 0 1
Cornelia de Lange syndrome 5 0 1 0 1
Costello syndrome 1 0 0 1
Early infantile epileptic encephalopathy 11 0 1 0 1
Early infantile epileptic encephalopathy 4 1 0 0 1
Familial hypertrophic cardiomyopathy 9 0 1 0 1
Growth and mental retardation, mandibulofacial dysostosis, microcephaly, and cleft palate 0 1 0 1
Holocarboxylase synthetase deficiency 0 1 0 1
Holt-Oram syndrome 1 0 0 1
Hypertrichotic osteochondrodysplasia 0 1 0 1
Joubert syndrome 23 1 0 0 1
Kabuki syndrome 1 1 0 0 1
Megalocornea 1 0 0 1
Mental retardation, X-linked 99, syndromic, female-restricted 0 1 0 1
Mental retardation, autosomal dominant 32 1 0 0 1
Mycobacterial and viral infections, susceptibility to, autosomal recessive 1 0 0 1
Noonan syndrome 8 1 0 0 1
Osteogenesis imperfecta, recessive perinatal lethal 0 1 0 1
Osteopetrosis autosomal recessive 4 0 1 0 1
Pelger-Huët anomaly 0 1 0 1
Polycystic kidney disease, adult type 1 0 0 1
Rett syndrome 1 0 0 1
Rett syndrome, congenital variant 0 1 0 1
Severe X-linked myotubular myopathy 1 0 0 1
Severe myoclonic epilepsy in infancy 0 1 0 1
Visceral myopathy 1 0 0 1
Wiedemann-Steiner syndrome 1 0 0 1
Young Simpson syndrome 1 0 0 1

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